Published online Oct 26, 2021. doi: 10.12998/wjcc.v9.i30.9276
Peer-review started: June 3, 2021
First decision: June 17, 2021
Revised: April 15, 2021
Accepted: August 23, 2021
Article in press: August 23, 2021
Published online: October 26, 2021
β-ketothiolase deficiency (β-KTD) is an inherited disease, and insufficient attention has been paid to imageology due to its lower morbidity. Therefore, few lesions outside the basal ganglia have been found before, and the persistent pathological changes have rarely been reported.
A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d prior. She was initially diagnosed with severe brain injury, central respiratory failure, metabolic acidosis com
The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in some β-KTD patients. In addition to biochemical tests, genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosing β-KTD but also to partially evaluating the short- and long-term outcomes. Moreover, more attention should be paid to the two mutations (c.478C>G; c.951C>T) that may be associated with severe β-KTD.
Core Tip: In our report, abnormal signals with a nodular shape were not only found in the bilateral basal ganglia (the lesions were mainly located in the corpus striatum), but they were also found in the bilateral cerebral peduncle and mesencephalon. These severe and extensive lesions caused the irreversible damage to the basal ganglia finally. It is suggested that the range of lesions in some patients may be more extensive than previously thought. In addition, two unusual mutations (c.478C>G; c.951C>T) may associate with this disease. As the clinical symptoms at the first onset were life-threatening with the extensive lesions, it is imperative that clinicians take notice when these two mutations appear in gene sequences.